Skip to main content
SpringerLink
Log in

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Gibson KM, Breuer J, Kaiser K et al (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.J Inher Metab Dis 11: 76–87

    Google Scholar 

  • Gibson KM, Lee CF, Kamali V et al (1990) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.Clin Chem 36: 297–303.

    Google Scholar 

  • Sweetman L (1991) Organic acid analysis. In: Hommes FA, ed.Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 143–176.

    Google Scholar 

  • Wanders RJA, Schutgens RBH, Zoeter PHM (1988) 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.Clin Chim Acta 171: 95–102.

    Google Scholar 

  • Wappner RS (1993) Biochemical diagnosis of genetic diseases.Pediatr Ann 22: 282–297.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center and Baylor Research Institute, Dallas, TX, USA

    K. M. Gibson

  2. Department of Pediatrics, College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA

    S. B. Cassidy & L. H. Seaver

  3. Department of Pediatrics, Academic Medical Center, University Hospital Amsterdam, The Netherlands

    R. J. A. Wanders

  4. Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA

    N. G. Kennaway

  5. Department of Pediatrics and Biochemistry and Medical Genetics Service, Hopital Sainte-Justine, Montreal, Canada

    G. A. Mitchell

  6. Departments of Pathology, Tucson Medical Center and College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA

    R. P. Spark

Authors
  1. K. M. Gibson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. B. Cassidy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. L. H. Seaver
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. J. A. Wanders
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. N. G. Kennaway
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G. A. Mitchell
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. R. P. Spark
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gibson, K.M., Cassidy, S.B., Seaver, L.H. et al. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis 17, 291–294 (1994). https://doi.org/10.1007/BF00711810

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711810

Keywords

Search

Navigation